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Case Reports
16p13.11 microdeletion in a patient with hemiconvulsion-hemiplegia-epilepsy syndrome: a case report.
- Christina I Miteff, Robert L Smith, Nicole L Bain, Gopinath Subramanian, Janis E Brown, and Ben Kamien.
- John Hunter Children's Hospital, New Lambton Heights, New South Wales, Australia christina.miteff@hnehealth.nsw.gov.au.
- J. Child Neurol. 2015 Jan 1; 30 (1): 83-6.
AbstractWe describe a patient with hemiconvulsion-hemiplegia-epilepsy syndrome. The pathophysiology of hemiconvulsion-hemiplegia-epilepsy syndrome remains uncertain and there are probably multiple potential contributing factors. Our patient had a chromosomal 16p13.11 microdeletion that confers susceptibility to various types of epilepsy. This is the first report detailing an association of hemiconvulsion-hemiplegia-epilepsy syndrome with a 16p13.11 deletion and identifies another potential causal factor for hemiconvulsion-hemiplegia-epilepsy syndrome.© The Author(s) 2014.
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